187 related articles for article (PubMed ID: 9605590)
1. Phenotypic variability associated with 14 splice-site mutations in the NF2 gene.
Kluwe L; MacCollin M; Tatagiba M; Thomas S; Hazim W; Haase W; Mautner VF
Am J Med Genet; 1998 May; 77(3):228-33. PubMed ID: 9605590
[TBL] [Abstract][Full Text] [Related]
2. The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.
Baser ME; Kuramoto L; Woods R; Joe H; Friedman JM; Wallace AJ; Ramsden RT; Olschwang S; Bijlsma E; Kalamarides M; Papi L; Kato R; Carroll J; Lázaro C; Joncourt F; Parry DM; Rouleau GA; Evans DG
J Med Genet; 2005 Jul; 42(7):540-6. PubMed ID: 15994874
[TBL] [Abstract][Full Text] [Related]
3. Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2).
Zhao Y; Kumar RA; Baser ME; Evans DG; Wallace A; Kluwe L; Mautner VF; Parry DM; Rouleau GA; Joe H; Friedman JM
Genet Epidemiol; 2002 Oct; 23(3):245-59. PubMed ID: 12384977
[TBL] [Abstract][Full Text] [Related]
4. Somatic neurofibromatosis type 2 gene mutations and growth characteristics in vestibular schwannoma.
Irving RM; Harada T; Moffat DA; Hardy DG; Whittaker JL; Xuereb JH; Maher ER
Am J Otol; 1997 Nov; 18(6):754-60. PubMed ID: 9391673
[TBL] [Abstract][Full Text] [Related]
5. A point mutation associated with a severe phenotype of neurofibromatosis 2.
MacCollin M; Braverman N; Viskochil D; Ruttledge M; Davis K; Ojemann R; Gusella J; Parry DM
Ann Neurol; 1996 Sep; 40(3):440-5. PubMed ID: 8797533
[TBL] [Abstract][Full Text] [Related]
6. Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: possible localization of a neurofibromatosis type 2 modifier gene?
Bruder CE; Ichimura K; Blennow E; Ikeuchi T; Yamaguchi T; Yuasa Y; Collins VP; Dumanski JP
Genes Chromosomes Cancer; 1999 Jun; 25(2):184-90. PubMed ID: 10338003
[TBL] [Abstract][Full Text] [Related]
7. Further genotype--phenotype correlations in neurofibromatosis 2.
Selvanathan SK; Shenton A; Ferner R; Wallace AJ; Huson SM; Ramsden RT; Evans DG
Clin Genet; 2010 Feb; 77(2):163-70. PubMed ID: 19968670
[TBL] [Abstract][Full Text] [Related]
8. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
Thiselton DL; Alexander C; Taanman JW; Brooks S; Rosenberg T; Eiberg H; Andreasson S; Van Regemorter N; Munier FL; Moore AT; Bhattacharya SS; Votruba M
Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1715-24. PubMed ID: 12036970
[TBL] [Abstract][Full Text] [Related]
9. Detection of novel NF2 mutations by an RNA mismatch cleavage method.
Faudoa R; Xue Z; Lee F; Baser ME; Hung G
Hum Mutat; 2000; 15(5):474-8. PubMed ID: 10790209
[TBL] [Abstract][Full Text] [Related]
10. Phenotypic variability in two families with novel splice-site and frameshift NF2 mutations.
Mautner VF; Baser ME; Kluwe L
Hum Genet; 1996 Aug; 98(2):203-6. PubMed ID: 8698343
[TBL] [Abstract][Full Text] [Related]
11. Phenotypic variability in monozygotic twins with neurofibromatosis 2.
Baser ME; Ragge NK; Riccardi VM; Janus T; Gantz B; Pulst SM
Am J Med Genet; 1996 Sep; 64(4):563-7. PubMed ID: 8870923
[TBL] [Abstract][Full Text] [Related]
12. Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes.
Kluwe L; Bayer S; Baser ME; Hazim W; Haase W; Fünsterer C; Mautner VF
Hum Genet; 1996 Nov; 98(5):534-8. PubMed ID: 8882871
[TBL] [Abstract][Full Text] [Related]
13. Impairment of cell adhesion by expression of the mutant neurofibromatosis type 2 (NF2) genes which lack exons in the ERM-homology domain.
Koga H; Araki N; Takeshima H; Nishi T; Hirota T; Kimura Y; Nakao M; Saya H
Oncogene; 1998 Aug; 17(7):801-10. PubMed ID: 9779996
[TBL] [Abstract][Full Text] [Related]
14. Multiple meningiomas: differential involvement of the NF2 gene in children and adults.
Evans DG; Watson C; King A; Wallace AJ; Baser ME
J Med Genet; 2005 Jan; 42(1):45-8. PubMed ID: 15635074
[TBL] [Abstract][Full Text] [Related]
15. Screening for large mutations of the NF2 gene.
Kluwe L; Nygren AO; Errami A; Heinrich B; Matthies C; Tatagiba M; Mautner V
Genes Chromosomes Cancer; 2005 Apr; 42(4):384-91. PubMed ID: 15645494
[TBL] [Abstract][Full Text] [Related]
16. Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene.
Sestini R; Vivarelli R; Balestri P; Ammannati F; Montali E; Papi L
Hum Genet; 2000 Oct; 107(4):366-71. PubMed ID: 11129337
[TBL] [Abstract][Full Text] [Related]
17. Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset.
Smith MJ; Higgs JE; Bowers NL; Halliday D; Paterson J; Gillespie J; Huson SM; Freeman SR; Lloyd S; Rutherford SA; King AT; Wallace AJ; Ramsden RT; Evans DG
J Med Genet; 2011 Apr; 48(4):261-5. PubMed ID: 21278391
[TBL] [Abstract][Full Text] [Related]
18. Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2.
Kaufmann D; Leistner W; Kruse P; Kenner O; Hoffmeyer S; Hein C; Vogel W; Messiaen L; Bartelt B
Cancer Res; 2002 Mar; 62(5):1503-9. PubMed ID: 11888927
[TBL] [Abstract][Full Text] [Related]
19. Tight association of loss of merlin expression with loss of heterozygosity at chromosome 22q in sporadic meningiomas.
Ueki K; Wen-Bin C; Narita Y; Asai A; Kirino T
Cancer Res; 1999 Dec; 59(23):5995-8. PubMed ID: 10606247
[TBL] [Abstract][Full Text] [Related]
20. Neurofibromatosis type 2: genetic and clinical features.
Evans DG
Ear Nose Throat J; 1999 Feb; 78(2):97-100. PubMed ID: 10089694
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
